Genetic Alterations in Hungarian Patients with Papillary Thyroid Cancer

Tobiás, Bálint; Halászlaki, Csaba; Balla, Bernadett; Kósa, János P.; Árvai, Kristóf; Horváth, Péter; Takács, István; Nagy, Zsolt; Horváth, E; Horanyi, J; Járay, Balázs; Székely, Eszter; Szèkely, T.; Gyõri, Gabriella; Putz, Zsuzsanna; Dank, Magdolna; Valkusz, Zsuzsanna; Vasas, Béla; Iványi, Béla; Peter, Luisa

doi:10.1007/s12253-015-9969-9

Cited by 7 publications

(8 citation statements)

References 45 publications

(66 reference statements)

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“…In 2017, Melo M et al reported 1.2% mutation frequency of NRAS in primary PTCs [20]. Tobiás B et al found 3.1% NRAS mutation in Hungarian Patients with PTC [34]. In 2018, NRAS promoter mutations were identified in 2 PTC cases, with a prevalence of 3.4% in the Greek Population [9].…”

Section: Discussionmentioning

confidence: 99%

Relevance and clinicopathologic relationship of BRAF V600E, TERT and NRAS mutations for papillary thyroid carcinoma patients in Northwest China

et al. 2019

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Background: To determine the relevance of the single or combination mutations of BRAF V600E, TERT, and NRAS genes and the clinicopathologic relationship in papillary thyroid cancer (PTC). Methods: Patients with PTC were enrolled into the study between February 2018 and April 2019. Based on the number of mutant genes, we classified the participants into single BRAF V600E mutation group, double mutations group and no mutation group. Single factor and multiple logistic regression analyses were applied to explore the independent factors. Review Manager 5.3 was used for meta-analysis to review the clinical efficacy of gene co-mutations. Results: Finally, 483 patients were enrolled into the study and 419 (86.7%) of them harbored BRAF V600E mutation. TERT or NRAS mutation was likely to coexist with BRAF V600E mutation in PTC. BRAF V600E and NRAS promoter co-mutations was identified in 6 patients, with a prevalence of 1.2%. Prevalence of BRAF V600E and TERT coexistence in PTC was 2.1%. Significant differences were found among age, pathology, multifocality, bilateral lesions, lymph node metastasis, and 131I radiotherapy, P < 0.01. Multiple logistic regression analyses demonstrated that age [odds ratio (OR) = 1.044, 95% confidence interval (CI) = 1.013-1.076; P = 0.006], lymph node metastasis [OR = 0.094, 95% CI = 0.034-0.264; P < 0.001], 131I radiotherapy [OR = 7.628, 95% CI = 2.721-21.378; P < 0.001] were risk factors for BRAF V600E mutation. Besides, age [OR = 1.135, 95% CI = 1.069-1.205; P < 0.001], multiple leisions [OR = 4.128, 95% CI = 1.026-16.614; P = 0.046], pathology [OR = 3.954, 95% CI = 1.235-12.654; P = 0.021] were independent factors for combination mutations. Meta-analysis showed significant association of BRAF V600E+/TERT+ co-mutations with lymph node metastasis, multifocality, distant metastasis, tumor recurrence, extrathyroidal extension, and dead of disease. Conclusions: Prevalence of BRAF V600E mutation in Northwest China was higher than other areas. Age, multiple lesions, and pathology were independent factors for double mutation of BRAF V600E/TERT or BRAF V600E/NRAS. Coexistence of BRAF V600E and TERT promoter mutations was significantly correlated with poor outcome.

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Section: Discussionmentioning

confidence: 99%

Relevance and clinicopathologic relationship of BRAF V600E, TERT and NRAS mutations for papillary thyroid carcinoma patients in Northwest China

et al. 2019

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“…Thyroid cancers have been found to harbor multiple gene mutations or rearrangements [ 16 , 21 – 25 ]. Cantara et al.…”

Section: Discussionmentioning

confidence: 99%

Clinicopathological characteristics of thyroid cancer in the federal state of Salzburg

Rendl

Rodrigues

Schweighofer-Zwink

et al. 2017

Wien Klin Wochenschr

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SummaryObjectiveThe aim of our investigation was to evaluate the clinicopathological characteristics and mutation patterns in newly diagnosed cases of thyroid cancer in the federal state of Salzburg, Austria, in the year 2013.MethodsThe medical records of all patients newly diagnosed with thyroid cancer in 2013 in the federal state of Salzburg were retrospectively reviewed. The clinicopathological characteristics and mutations of thyroid cancers were analyzed.Results63 patients (mean age: 51.0 years, range: 21–81 years; female 75%, male 25%) were identified. 53 patients had papillary (12 follicular variant), 4 patients follicular (1 oxyphilic variant), 3 patients medullary, and 3 patients anaplastic thyroid cancer. T1 tumors were found in 34 patients (pT1a, 20 patients; pT1b, 14 patients), T2 tumors in 10 patients, T3 tumors in 16 patients, and T4 tumors in 3 patients. Lymph node involvement was seen in 15 patients and metastatic disease in 1 patient. Mutations of BRAF (B-type Raf kinase) were detected in 23 and mutation of NRAS (Neuroblastoma RAS Viral Oncogene Homolog) in 2 papillary thyroid cancers. No concomitant mutations of BRAF and NRAS were found.ConclusionFemales accounted for 75% of the patients with newly diagnosed thyroid cancer and the incidence peaked at a younger age than in males. Papillary thyroid cancer was the most frequent tumor type, accounting for 84% of the cases. A high frequency of T1 tumors and cancers with no lymph node involvement was found. Males had a higher proportion of large tumors and more aggressive forms of thyroid cancer than females. Mutations (mostly of BRAF) were found in 47% of the cases. Neither mutations of KRAS (Kirsten rat sarcoma viral oncogene homologue) nor concomitant mutations of BRAF and NRAS were found.

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“…The concentration of the isolated gDNAwas determined using the Qubit dsDNA HS Assay Kit (Thermo Fisher, Waltham, MA, USA) and the quality was assessed using NanoDrop spectrophotometer (NanoDrop Technologies, Montchanin, DE, USA) at 260/ 280 nm. Our samples were characterized by LightCycler melting curve analysis for BRAF codon 600, KRAS codons 12 and 13, NRAS codon 61 and HRAS codon 61 [2].…”

Section: Biological Samples and Genomic Dna Isolationmentioning

confidence: 99%

“…Thyroid cancer found in nodules of the gland is the most common endocrine malignancy (approximately 2.0-3.0% of all new cancers diagnosed each year in the USA) and its incidence is continuously growing worldwide during the recent decades [1]. The vast majority (60-80%) of thyroid cancers are well-differentiated papillary thyroid carcinomas (PTC) [2]. PTC tissues often dispose somatic mutations in the MAPK pathway elements, namely BRAF, HRAS, KRAS and NRAS, as well as in one of the most important tumor suppressor TP53…”

Section: Introductionmentioning

confidence: 99%

Targeted Mutational Profiling and a Powerful Risk Score as Additional Tools for the Diagnosis of Papillary Thyroid Cancer

Kocsis-Deák

Árvai²,

Balla

et al. 2019

Pathol. Oncol. Res.

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Nowadays, the complementary diagnostics based on the suspicious thyroid lesion specific mutational state analysis is indispensable in the clinical practice. We aimed to test and validate our novel 568-mutational hotspot panel (23 cancer-related genes) on papillary thyroid cancers (PTCs) and their tumor-free pairs to find the most powerful mutation pattern related to PTC. The sequencing method was carried on with Ion Torrent PGM on 67 thyroid tissue samples. The most commonly detected mutation was the BRAF c.1799 T > A in all non-classical PTC cases. We utilized a multivariate statistical method (CVA) to determine a discrimination score based on mutational data array and to assess malignancy risk. Based on variants, the BRAF gene has by far the highest indicative power, followed by TSHR and APC. We highlighted novel aspects of the mutational profile and genetic markers of PTC. CVA has correctly assigned most of the samples based on the mutation frequencies and different variables of the selected genes, with high analytical probabilities. The final goal is to set up a new comprehensive rule-in and rule-out test to support the clinical decision making mainly in inconclusive fine-needle aspiration biopsy cases.

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Genetic Alterations in Hungarian Patients with Papillary Thyroid Cancer

Cited by 7 publications

References 45 publications

Relevance and clinicopathologic relationship of BRAF V600E, TERT and NRAS mutations for papillary thyroid carcinoma patients in Northwest China

Relevance and clinicopathologic relationship of BRAF V600E, TERT and NRAS mutations for papillary thyroid carcinoma patients in Northwest China

Clinicopathological characteristics of thyroid cancer in the federal state of Salzburg

Targeted Mutational Profiling and a Powerful Risk Score as Additional Tools for the Diagnosis of Papillary Thyroid Cancer

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